| Disease ID | Source | Name | Description |
| 615637 | OMIM | Mental retardation, autosomal recessive 41 (MRT41) | A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT41 most consistent features are global developmental delay, macrocephaly with frontal bossing, high levels of anxiety, and some features suggestive of a pervasive developmental disorder. Less common features include fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. The disease is caused by variants affecting the gene represented in this entry. |